Varaico: Literature-Extracted Genetic Variants

Gene:ASCL2
Variant:p.A10A

ASCL2

34 papers

RefSeq Summary

This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is ...

Pfam Domains

HLHaa 51–103UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

achaete-scute family bHLH transcription factor 2

HGNC Alias Symbols

ASH2; HASH2; bHLHa45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005170.3
p.A10A
c.30G>T
Surrounding Variants
1 paper
NM_005170.3
p.R8S
c.24G>T
1 paper
NM_005170.3
p.A13A
c.39G>T
1 paper
NM_005170.3
p.L6P
c.17T>C
1 paper
NM_005170.3
p.G19V
c.56G>T
1 paper
NM_005170.3
p.R24R
c.72G>T
1 paper
NM_005170.3
p.R25T
c.74G>C
1 paper
NM_005170.3
p.P26R
c.77C>G
1 paper
NM_005170.3
p.E30G
c.89A>G
1 paper
NM_005170.3
p.R37W
c.109C>T
1 paper
NM_005170.3
p.R38R
c.114G>A
1 paper
NM_005170.3
p.N56S
c.167A>G
1 paper
NM_005170.3
p.R100C
c.298C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."